This software compares a patient's findings to the findings in 5,591 diseases. It suggests a "differential diagnosis" and
identifies other findings and lab tests that may be useful in reaching a diagnosis. It uses detailed information about the patient to assist with diagnosis, so it is best to watch one of the demo videos before using it.

The tool includes the 3,100 genes with convincing germline human disease phenotypes. It also includes many nongenetic diseases, with particular strength in neurology and rheumatology.

The software may be used only by medical professionals (doctors, nurse
practitioners, genetic counselors, bioinformaticists, medical librarians, laboratory technician, or research and development scientists developing clinical laboratory processes and supervised trainees in these professions).
When the software has loaded in the box below, you will be able log-in, or enter using
institutional access. By
entering the software you signify that you
are a medical professional and that you accept the
Limitations and Terms of Use
agreement for use of the program and database.